Canonical Allele Identifier: CA2433379228
Gene: AMER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192019_64192020delinsAG , CM000685.2:g.64192019_64192020delinsAG GRCh38
NC_000023.10:g.63411899_63411900delinsAG , CM000685.1:g.63411899_63411900delinsAG GRCh37
NC_000023.9:g.63328624_63328625delinsAG NCBI36
NG_021345.1:g.18725_18726delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1267_1268delinsCT MANE Select ENSP00000364003.4:p.Leu423=
ENST00000330258.3:c.1267_1268delinsCT ENSP00000329117.3:p.Leu423=
ENST00000374869.7:c.1267_1268delinsCT ENSP00000364003.3:p.Leu423=
NM_152424.3:c.1267_1268delinsCT NP_689637.3:p.Leu423=
XM_011530858.1:c.1267_1268delinsCT XP_011529160.1:p.Leu423=
NM_152424.4:c.1267_1268delinsCT MANE Select NP_689637.3:p.Leu423=